Canonical Allele Identifier: CA387802011

Gene: POMP

Linked Data

• MyVariant Identifiers: chr13:g.29233323T>C (hg19) ; chr13:g.28659186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659186T>C , CM000675.2:g.28659186T>C	GRCh38
NC_000013.10:g.29233323T>C , CM000675.1:g.29233323T>C	GRCh37
NC_000013.9:g.28131323T>C	NCBI36
NG_027550.1:g.5183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-247T>C	ENSP00000513386.1:n.-247T>C
ENST00000697662.1:c.-283T>C	ENSP00000513387.1:n.-283T>C
ENST00000697716.1:c.-84T>C	ENSP00000513414.1:n.-84T>C
ENST00000697717.1:c.2T>C	ENSP00000513415.1:p.Met1Thr
ENST00000697718.1:c.2T>C	ENSP00000513416.1:p.Met1Thr
ENST00000380842.5:c.2T>C MANE Select	ENSP00000370222.4:p.Met1Thr
ENST00000380842.4:c.2T>C	ENSP00000370222.4:p.Met1Thr
ENST00000460403.1:n.83T>C
NM_015932.5:c.2T>C	NP_057016.1:p.Met1Thr
NM_015932.6:c.2T>C MANE Select	NP_057016.1:p.Met1Thr